Variant report

Variant	esv3359960
Chromosome Location	chr10:44190546-44193444
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:44185584..44187183-chr10:44191790..44193996,2	K562	blood:
2	chr10:44183379..44187369-chr10:44190252..44193395,4	MCF-7	breast:

Extended variants
information (count: 175 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553370895	chr10:44190552-44190553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561798649	chr10:44190592-44190593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567731503	chr10:44190653-44190654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181040283	chr10:44190682-44190683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73266540	chr10:44190683-44190684	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577928647	chr10:44190775-44190776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538990827	chr10:44190822-44190823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150649667	chr10:44190831-44190832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74878781	chr10:44190844-44190845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7081485	chr10:44190879-44190880	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs561645263	chr10:44190884-44190885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78284255	chr10:44190893-44190894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541029080	chr10:44190909-44190910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184244744	chr10:44190922-44190923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532947832	chr10:44190923-44190924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551433345	chr10:44190953-44190954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10793468	chr10:44190964-44190965	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs573296106	chr10:44190967-44190968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61116341	chr10:44190974-44190975	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs549125265	chr10:44190991-44190992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567426889	chr10:44191009-44191010	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs11238630	chr10:44191022-44191023	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs534756649	chr10:44191031-44191032	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs114378282	chr10:44191032-44191033	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs542123980	chr10:44191044-44191045	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs59854314	chr10:44191050-44191051	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs113555404	chr10:44191092-44191093	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs11238631	chr10:44191113-44191114	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs555736376	chr10:44191135-44191136	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs556008370	chr10:44191136-44191137	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs568940367	chr10:44191137-44191138	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs10899857	chr10:44191192-44191193	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs55673741	chr10:44191199-44191200	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs557916492	chr10:44191204-44191205	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547920908	chr10:44191222-44191223	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559487219	chr10:44191261-44191262	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181148833	chr10:44191265-44191266	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149786290	chr10:44191277-44191278	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563448196	chr10:44191289-44191290	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530803763	chr10:44191309-44191310	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548916684	chr10:44191310-44191311	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35055138	chr10:44191316-44191317	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372411874	chr10:44191359-44191360	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79216859	chr10:44191385-44191386	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546721183	chr10:44191386-44191387	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571391953	chr10:44191387-44191388	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186135167	chr10:44191428-44191429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553779403	chr10:44191430-44191431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573882932	chr10:44191431-44191432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114961330	chr10:44191454-44191455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44186200-44191600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:44186200-44193000	Weak transcription	Right Atrium	heart
3	chr10:44188000-44190800	Weak transcription	Adipose Nuclei	Adipose
4	chr10:44188000-44192800	Weak transcription	Lung	lung
5	chr10:44188000-44194600	Weak transcription	Ovary	ovary
6	chr10:44188000-44195000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr10:44188000-44196800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:44188600-44191800	Weak transcription	Fetal Heart	heart
9	chr10:44188600-44192800	Weak transcription	Left Ventricle	heart
10	chr10:44189600-44191800	Weak transcription	Fetal Kidney	kidney
11	chr10:44189600-44195400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:44190000-44191600	Weak transcription	Spleen	Spleen
13	chr10:44190200-44190600	Weak transcription	Right Ventricle	heart
14	chr10:44190400-44190600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:44190600-44191400	Enhancers	Right Ventricle	heart
16	chr10:44190800-44191200	Enhancers	Adipose Nuclei	Adipose
17	chr10:44191000-44191200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr10:44191000-44191200	Enhancers	Psoas Muscle	Psoas
19	chr10:44191200-44191400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr10:44191200-44192400	Weak transcription	Adipose Nuclei	Adipose
21	chr10:44191400-44191800	Weak transcription	Right Ventricle	heart
22	chr10:44191600-44191800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr10:44191600-44192200	Active TSS	Spleen	Spleen
24	chr10:44191600-44192600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:44191800-44192400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr10:44191800-44192600	ZNF genes & repeats	Fetal Kidney	kidney
27	chr10:44191800-44196400	Enhancers	Fetal Heart	heart
28	chr10:44191800-44197000	Enhancers	Right Ventricle	heart
29	chr10:44192000-44193800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr10:44192200-44193600	Weak transcription	Spleen	Spleen
31	chr10:44192400-44194600	Enhancers	Adipose Nuclei	Adipose
32	chr10:44192400-44195400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr10:44192600-44195800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:44192600-44196000	Weak transcription	Fetal Kidney	kidney
35	chr10:44192600-44196600	Enhancers	Fetal Muscle Trunk	muscle
36	chr10:44192800-44194600	Enhancers	Lung	lung
37	chr10:44192800-44196000	Enhancers	Left Ventricle	heart
38	chr10:44193000-44196000	Enhancers	Right Atrium	heart
39	chr10:44193400-44194600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr10:44193400-44194600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links